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Challenges and dilemmas in pediatric hepatic Wilson’s disease 被引量:1
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作者 Upasana Ghosh Moinak Sen Sarma Arghya Samanta 《World Journal of Hepatology》 2023年第10期1109-1126,共18页
Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are ... Wilson disease is an autosomal recessive disorder affecting the ATP7B gene located on chromosome 13q.This leads to copper deposition in various organs,most importantly in the liver and brain.The genetic mutations are vast,well reported in the West but poorly documented in developing countries.Hence the diagnosis is made with a constellation of clinico-laboratory parameters which have significant overlap with other liver diseases and often pose a significant dilemma for clinicians.Diagnostic scoring systems are not fool-proof.The availability and affordability of chelators in developing countries impact the drug compliance of patients.While D-penicillamine is a potent drug,its side effects lead to drug discontinuation.Trientine is cost-prohibitive in developing countries.There is no single test to assess the adequacy of chelation.Exchangeable urinary copper is an essential upcoming diagnostic and prognostic tool.In the presence of cirrhosis,hypersplenism clouds the assessment of myelosuppression of drugs.Similarly,it may be difficult to distinguish disease tubulopathy from druginduced glomerulonephritis.Neurological worsening due to chelators may appear similar to disease progression.Presentation as fulminant hepatic failure requires rapid workup.There is a limited window of opportunity to salvage these patients with the help of plasmapheresis and other liver-assisted devices.This review addresses the challenges and clinical dilemmas faced at beside in developing countries. 展开更多
关键词 wilson’s disease CHILDREN Hepatic wilson disease D-PENICILLAMINE Trientine Exchangeable copper
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小儿Wilson’s病亲属活体部分肝移植围术期处理的探讨 被引量:2
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作者 高成杰 宁吉顺 +3 位作者 李训美 倪家连 李清 李波 《实用医学杂志》 CAS 2004年第12期1361-1363,共3页
目的 :总结小儿Wilson’s病亲属活体部分肝移植术围术期处理的特殊性。方法 :1例Wilson’s病患儿在全麻下行亲属活体部分原位肝移植 ,术中连续监测体温、血流动力学、血气、生化、凝血功能及血常规。结果 :与术前相比 ,术中血钾、血糖... 目的 :总结小儿Wilson’s病亲属活体部分肝移植术围术期处理的特殊性。方法 :1例Wilson’s病患儿在全麻下行亲属活体部分原位肝移植 ,术中连续监测体温、血流动力学、血气、生化、凝血功能及血常规。结果 :与术前相比 ,术中血钾、血糖、凝血功能、血红蛋白、心率、体温均有显著变化。结论 :在确保供体安全的同时维持受体的血流动力学稳定 ,随时纠正水电解质和酸碱平衡的紊乱 ,加强血气、生化及凝血功能的监测与调控是手术顺利完成的关键。 展开更多
关键词 wilson’s病 活体部分肝移植 围术期处理 凝血功能 亲属 血气 术中 结论 特殊性 纠正
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应用Amp-FLP单体型连锁分析检测Wilson’s患者的基因突变
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作者 陈悦 佟彤 +2 位作者 高文英 宋力 乔丽津 《天津医药》 CAS 北大核心 2003年第11期704-706,共3页
目的 :探讨STR位点变异基因型诊断Wilson’s疾病 (WD)的价值。方法 :采用Amp-FLP分析方法检测了4个WD患儿及其家系3个位点的基因型。结果 :4例先证者均为纯合子 ,14例家系成员中1例为WD患者 ,10例为WD基因携带者 ,2例为正常人 ,另有1例... 目的 :探讨STR位点变异基因型诊断Wilson’s疾病 (WD)的价值。方法 :采用Amp-FLP分析方法检测了4个WD患儿及其家系3个位点的基因型。结果 :4例先证者均为纯合子 ,14例家系成员中1例为WD患者 ,10例为WD基因携带者 ,2例为正常人 ,另有1例推断为WD基因携带者。结论 :用连锁分析方法检测STR位点 ,确定相关个体的基因型 ,方法简便、灵敏、可靠。 展开更多
关键词 AMP-FLP 检测 wilson’s 基因突变 肝豆状核变性 扩增片段长度多态性 STR位点 单体型连锁分析
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Wilson’s病:一个潜在的可治疗的遗传性疾病
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作者 温博 王炳元 《实用肝脏病杂志》 CAS 2020年第2期156-159,共4页
Wilson’s病(WD)或称肝-豆状核变性,其少见性、多系统受累和临床异质性使得单凭临床经验很难诊断和治疗[1],但它又是少数可以治疗的遗传性疾病之一。若能早期诊断并给予有效的治疗,可以改善患者预后。除了临床熟知的常见症状、诊断技术... Wilson’s病(WD)或称肝-豆状核变性,其少见性、多系统受累和临床异质性使得单凭临床经验很难诊断和治疗[1],但它又是少数可以治疗的遗传性疾病之一。若能早期诊断并给予有效的治疗,可以改善患者预后。除了临床熟知的常见症状、诊断技术和常用药物外,期望临床医生更多地、更准确地关注临床前的人群和特殊WD患者的处理。 展开更多
关键词 wilson’s病 诊断 治疗
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儿童Wilson’s病的超声诊断 被引量:3
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作者 邹韧 徐斐燕 +1 位作者 沈爱莲 丁文熙 《医学影像学杂志》 2001年第1期48-49,共2页
目的 :探讨儿童Wilson’s病的超声特点及早期诊断的临床价值。方法 :本组 31例患儿 ,其中 2 4例做过超声检查 ,对其进行回顾性分析。结果 :超声提示肝硬化 2 0例 ,脾大 2 0例 ,腹水 8例。本组肝、腹型有 17例 ,神经型 7例 ,肝、神经型 ... 目的 :探讨儿童Wilson’s病的超声特点及早期诊断的临床价值。方法 :本组 31例患儿 ,其中 2 4例做过超声检查 ,对其进行回顾性分析。结果 :超声提示肝硬化 2 0例 ,脾大 2 0例 ,腹水 8例。本组肝、腹型有 17例 ,神经型 7例 ,肝、神经型 5例。结论 :根据超声特点 ,并结合铜代谢及角膜K -F环检查 ,便可确诊。 展开更多
关键词 儿童 wilson 超声波诊断
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Wilson’s病基因连锁分析及早期诊断和杂合子检出 被引量:4
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作者 徐评议 梁秀龄 +1 位作者 刘焯霖 潘锡榜 《中国神经精神疾病杂志》 CAS CSCD 北大核心 1996年第2期69-71,共3页
本文利用3个DNA标记探针对15个WD家系85名成员进行连锁分析,同时结合其临床铜生化检测结果。在40名同胞中,检出6名为症状前患者,15名为杂合子,10名为正常人,此结果在80%可信限内。结果表明,应用此三个DNA... 本文利用3个DNA标记探针对15个WD家系85名成员进行连锁分析,同时结合其临床铜生化检测结果。在40名同胞中,检出6名为症状前患者,15名为杂合子,10名为正常人,此结果在80%可信限内。结果表明,应用此三个DNA标记对WD基因进行连锁分析是有效的。 展开更多
关键词 限制性片段长度 多态性 基因诊断 肝豆状核变性
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Diagnostic challenges of Wilson’s disease presenting as acute pancreatitis, cholangitis, and jaundice 被引量:5
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作者 Elchanan Nussinson Azmi Shahbari +3 位作者 Fahmi Shibli Elena Chervinsky Philippe Trougouboff Arie Markel 《World Journal of Hepatology》 CAS 2013年第11期649-653,共5页
Wilson’s disease is a rare disorder of copper transport in hepatic cells,and may present as cholestatic liver disease;pancreatitis and cholangitis are rarely associated with Wilsons’s disease.Moreover,cases of Wilso... Wilson’s disease is a rare disorder of copper transport in hepatic cells,and may present as cholestatic liver disease;pancreatitis and cholangitis are rarely associated with Wilsons’s disease.Moreover,cases of Wilson s disease presenting as pigmented gallstone pancreatitis have not been reported in the literature.In the present report,we describe a case of a 37-year-old man who was admitted with jaundice and abdomina pain.The patient was diagnosed with acute pancreatitis,cholangitis,and obstructive jaundice caused by pigmented gallstones that were detected during retrograde cholangiopancreatography.However,because of his long-term jaundice and the presence of pigmented gallstones,the patient underwent further evaluation for Wilson’s disease,which was subsequently confirmed.This patient’s unique presentation exemplifies the overlap in the clinical and laboratory parameters of Wilson’s disease and cholestasis,and the difficulties associated with their differentiation.It suggests thatWilson’s disease should be considered in patients with pancreatitis,cholangitis,and severe protracted jaundice caused by pigmented gallstones. 展开更多
关键词 wilson’s disease PANCREATITIS CHOLANGITIS OBSTRUCTIVE JAUNDICE CHOLESTASIS
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Wilson’s病患者亲体部分肝移植和全肝移植术后血清铜蓝蛋白及尿铜水平的变化 被引量:1
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作者 张峰 成峰 +7 位作者 王学浩 李相成 孙连宝 李君 李国强 钱晓峰 汤琪云 夏永祥 《中国普外基础与临床杂志》 CAS 2004年第2期145-147,共3页
目的 总结Wilson’s病患者亲体肝移植和全肝移植术后血清铜蓝蛋白及尿铜水平的恢复情况。方法 自 2 0 0 0年 9月至 2 0 0 3年 11月我院为 2 6例Wilson’s病患者施行了肝移植术 ,均并发终末期肝硬变 ,其中 3例发生急性肝功能衰竭。术... 目的 总结Wilson’s病患者亲体肝移植和全肝移植术后血清铜蓝蛋白及尿铜水平的恢复情况。方法 自 2 0 0 0年 9月至 2 0 0 3年 11月我院为 2 6例Wilson’s病患者施行了肝移植术 ,均并发终末期肝硬变 ,其中 3例发生急性肝功能衰竭。术前血清铜蓝蛋白和尿铜水平分别为 (12 4 .8± 2 2 .8)mg/L和 (15 2 4 .8± 32 8.6 ) μg/ 2 4h ,其中行活体部分肝移植 2 2例 ,全肝移植 4例 ,亲体肝移植供体术前血清铜蓝蛋白水平为 (2 30 .4± 2 9.6 )mg/L ,尿铜水平均 <5 0μg/ 2 4h。结果 所有患者手术顺利 ,全肝移植患者术后 1、3、6及 12个月血清铜蓝蛋白和尿铜水平分别为 (32 0 .2±36 .8)mg/L、(380 .4± 4 5 .6 )mg/L、(36 0 .5± 37.6 )mg/L、(35 6 .2± 2 7.6 )mg/L和 (2 4 0 .4± 2 2 .8) μg/ 2 4h、(86 .5± 10 .6 ) μg/ 2 4h、(5 4 .2± 6 .8) μg/ 2 4h及 (46 .8± 3.4 ) μg/ 2 4h ;亲体肝移植患者术后 1、3、6及 12个月血清铜蓝蛋白和尿铜水平分别为 (2 16 .8± 2 0 .4 )mg/L、(2 4 8.5± 32 .6 )mg/L、(2 85 .4± 4 4 .3)mg/L、(2 6 0 .2± 36 .6 )mg/L和(380 .8± 37.6 ) μg/ 2 4h、(15 0 .6± 2 4 .5 ) μg/ 2 4h、(75 .5± 9.6 ) μg/ 2 4h及 (6 0 .3± 5 .8) μg/ 2 4h。 展开更多
关键词 wilson′s病 亲体部分 肝移植 全肝移植术 血清 铜蓝蛋白 尿铜 临床资料
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Wilson’s病影像学特征
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作者 王儒阳 吴思嘉 +1 位作者 佟静 李异玲 《实用肝脏病杂志》 CAS 2020年第2期159-162,共4页
Wilson’s病(WD)是一种罕见的常染色体隐性遗传性铜代谢紊乱性疾病,其发病率在中国高于西方国家,但系可有效治疗的疾病[1]。ATP7B功能障碍导致低血浆蛋白血症和肝细胞铜去除不足,从而造成肝损伤。过多的铜以非铜蓝蛋白结合的形式释放到... Wilson’s病(WD)是一种罕见的常染色体隐性遗传性铜代谢紊乱性疾病,其发病率在中国高于西方国家,但系可有效治疗的疾病[1]。ATP7B功能障碍导致低血浆蛋白血症和肝细胞铜去除不足,从而造成肝损伤。过多的铜以非铜蓝蛋白结合的形式释放到血液中,后者积聚并对其他组织,特别是大脑造成损害,出现不同程度的神经精神症状[2]。临床表现的有无和程度取决于诊断时的疾病阶段和病理学变化。尽管基于裂隙灯检查发现角膜Kayser-Fleischer(K-F)环的存在、实验室检查[3]和基因检测等可使部分患者得到确诊和及时有效的治疗,遗憾的是仍然有很多患者病情发展到严重的终末期才被发现。随着超声(ultrasound,US)、计算机断层扫描(computed tomography,CT)和磁共振成像(magnetic resonance imaging,MRI)技术的发展,在症状出现前能精确地发现其影像学表现,为WD患者的及早诊断和疗效监测提供了比较客观的依据。 展开更多
关键词 wilson’s病 影像学特征 磁共振成像
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Acute liver failure with hemolytic anemia in children with Wilson’s disease:Genotype-phenotype correlations? 被引量:2
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作者 Tudor Lucian Pop Alina Grama +2 位作者 Ana Cristina Stefanescu Claudia Willheim Peter Ferenci 《World Journal of Hepatology》 2021年第10期1428-1438,共11页
BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper metabolism.Acute liver failure(ALF)and hemolytic anemia represent the most severe presentation of WD in children.No clear geno... BACKGROUND Wilson’s disease(WD)is a rare autosomal recessive inherited disorder of copper metabolism.Acute liver failure(ALF)and hemolytic anemia represent the most severe presentation of WD in children.No clear genotype-phenotype correlations exist in WD.Protein-truncating nonsense,frame-shift,or splice-site variants may be associated with more severe disease.In contrast,missense variants may be associated with late-onset,less severe disease,and more neurological manifestations.Recently,a gene variant(HSD17B13:TA,rs72613567)with a possible hepatic protective role against toxins was associated with a less severe hepatic phenotype in WD.AIM To analyze the possible genotype-phenotype correlations in children with WD presented with ALF and non-immune hemolytic anemia.METHODS The medical records of children with WD diagnosed and treated in our hospital from January 2006 to December 2020 were retrospectively analyzed.The clinical manifestations(ALF with non-immune hemolytic anemia or other less severe forms),laboratory parameters,copper metabolism,ATP7B variants,and the HSD17B13:TA(rs72613567)variant were reviewed to analyze the possible genotype-phenotype correlations.RESULTS We analyzed the data of 51 patients with WD,26 females(50.98%),with the mean age at the diagnosis of 12.36±3.74 years.ALF and Coombs-negative hemolytic anemia was present in 8 children(15.67%),all adolescent girls.The Kayser-Fleisher ring was present in 9 children(17.65%).The most frequent variants of the ATP7B gene were p.His1069Gln(c.3207A>G)in 38.24% of all alleles,p.Gly1341Asp(c.4021G>A)in 26.47%,p.Trp939Cys(c.2817G>T)in 9.80%,and p.Lys844Ter(c.2530A>T)in 4.90%.In ALF with hemolytic anemia,p.Trp939Cys(c.2817G>T)and p.Lys844Ter(c.2530A>T)variants were more frequent than in other less severe forms,in which p.His1069Gln(c.3207A>G)was more frequent.p.Gly1341Asp(c.4021G>A)has a similar frequency in all hepatic forms.For 33 of the patients,the HSD17B13 genotype was evaluated.The overall HSD17B13:TA allele frequency was 24.24%.Its frequency was higher in patients with less severe liver disease(26.92%)than those with ALF and hemolytic anemia(14.28%).CONCLUSION It remains challenging to prove a genotype-phenotype correlation in WD patients.In children with ALF and hemolytic anemia,the missense variants other than p.His1069Gln(c.3207A>G)and frame-shift variants were the most frequently present in homozygous status or compound heterozygous status with site splice variants.As genetic analysis is usually time-consuming and the results are late,the importance at the onset of the ALF is questionable.If variants proved to be associated with severe forms are found in the pre-symptomatic phase of the disease,this could be essential to predict a possible severe evolution. 展开更多
关键词 wilson’s disease CHILDREN Acute liver failure Hemolytic anemia ATP7B variant Genotype-phenotype correlation
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Practical insights into chronic management of hepatic Wilson’s disease 被引量:1
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作者 Erica Nicola Lynch Claudia Campani +3 位作者 Tommaso Innocenti Gabriele Dragoni Paolo Forte Andrea Galli 《World Journal of Clinical Cases》 SCIE 2022年第14期4334-4347,共14页
Wilson’s disease(WD)is a rare inherited disorder of human copper metabolism,with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations.In healthy individuals,t... Wilson’s disease(WD)is a rare inherited disorder of human copper metabolism,with an estimated prevalence of 1:30000-1:50000 and a broad spectrum of hepatic and neuropsychiatric manifestations.In healthy individuals,the bile is the main route of elimination of copper.In WD patients,copper accumulates in the liver,it is released into the bloodstream,and is excreted in urine.Copper can also be accumulated in the brain,kidneys,heart,and osseous matter and causes damage due to direct toxicity or oxidative stress.Hepatic WD is commonly but not exclusively diagnosed in childhood or young adulthood.Adherent,non-cirrhotic WD patients seem to have a normal life expectancy.Nevertheless,chronic management of patients with Wilson’s disease is challenging,as available biochemical tests have many limitations and do not allow a clear identification of non-compliance,overtreatment,or treatment goals.To provide optimal care,clinicians should have a complete understanding of these limitations and counterbalance them with a thorough clinical assessment.The aim of this review is to provide clinicians with practical tools and suggestions which may answer doubts that can arise during chronic management of patients with hepatic WD.In particular,it summarises current knowledge on Wilson’s disease clinical and biochemical monitoring and treatment.It also analyses available evidence on pregnancy and the role of low-copper diet in WD.Future research should focus on trying to provide new copper metabolism tests which could help to guide treatment adjustments. 展开更多
关键词 wilson’s disease Urinary copper excretion Non-ceruloplasmin-bound copper D-PENICILLAMINE Trientine Zinc salts
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威尔逊的行政监督思想及其现代启示2)Wilson’sA 被引量:1
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作者 陈建平 《公共管理学报》 2005年第4期73-78,共6页
介绍了威尔逊的行政监督思想。威尔逊行政监督思想是通过他对公共舆论与行政管理之间的关系所进行的分析而得到阐释的。公共舆论在行政管理中所起的作用倍受威尔逊“推崇”,但他同时也注意到了公共舆论的一些不足之处。从不同视角切入... 介绍了威尔逊的行政监督思想。威尔逊行政监督思想是通过他对公共舆论与行政管理之间的关系所进行的分析而得到阐释的。公共舆论在行政管理中所起的作用倍受威尔逊“推崇”,但他同时也注意到了公共舆论的一些不足之处。从不同视角切入来解读威尔逊行政监督思想的关键词——公共舆论,最后分析和阐述了威氏行政监督思想与现代行政理念的契合点。 展开更多
关键词 威尔逊 行政监督 公共舆论
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实用WILSON’S中心电端计算公式 被引量:2
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作者 李亚林 《数理医药学杂志》 2004年第2期103-105,共3页
以电学中设零电位的原则推导 Wilson’s中心电端计算公式 + 3 。由 Wilson’s中心电端计算公式可分别推导出三种胸肢导联 ,即 CR(胸 -右上肢 ) =Uc-( + 3 - + 3 ) ,CL(胸 -左上肢 ) =Uc-( + 3 + - 3 ) ,CF(胸 -左下肢 ) =Uc-( + ... 以电学中设零电位的原则推导 Wilson’s中心电端计算公式 + 3 。由 Wilson’s中心电端计算公式可分别推导出三种胸肢导联 ,即 CR(胸 -右上肢 ) =Uc-( + 3 - + 3 ) ,CL(胸 -左上肢 ) =Uc-( + 3 + - 3 ) ,CF(胸 -左下肢 ) =Uc-( + 3 + + 3 )。以软件的方式即可在计算机化的同步十二导心电图机上记录出同步的三种胸肢导联心电图。 展开更多
关键词 wilson’S中心电端 计算公式 心电描记术 电学原理 心电图 胸肢导联
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叙事护理改善住院Wilson’s病患者焦虑抑郁负性情绪作用研究 被引量:1
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作者 刘永凤 高明 胡章芹 《中医药临床杂志》 2019年第7期1387-1390,共4页
目的:了解住院Wilson’s病(WD)患者的焦虑抑郁负性情绪发生情况,探讨叙事护理对住院WD患者焦虑抑郁负性情绪的改善作用,寻找WD患者的有效心理护理措施。方法:选择2018年1月~2018年12月我院神经内科首次住院的124例WD患者,入院时分别进行... 目的:了解住院Wilson’s病(WD)患者的焦虑抑郁负性情绪发生情况,探讨叙事护理对住院WD患者焦虑抑郁负性情绪的改善作用,寻找WD患者的有效心理护理措施。方法:选择2018年1月~2018年12月我院神经内科首次住院的124例WD患者,入院时分别进行SAS、SDS量表检测,对于存在焦虑抑郁负性情绪的WD患者运用叙事护理疗法进行心理干预,3周后再次进行SAS、SDS量表检测评价叙事护理的疗效。结果:首次住院的124例WD患者中有115例(92.7%)存在焦虑抑郁负性情绪,入组的115例WD患者中男60例,女55例,年龄18~42岁,平均25.3±6.1岁,病程1月~2年,平均6.1±4.3月。病程是肝型和脑型WD患者的入院时SAS、SDS评分的影响因素(χ^2/Z=-2.697,P=0.007),叙事护理进行3周后,相比入院时的评分,肝型WD患者的SAS和SDS评分以及脑型WD患者SDS评分均显著降低,且差异有统计学意义。结论:首次住院的WD患者大部分存在焦虑抑郁负性情绪,叙事护理对改善住院的肝型和脑型WD患者抑郁,及肝型WD患者焦虑的负性情绪有明显疗效。 展开更多
关键词 叙事护理 wilson’s病 焦虑自评量表 抑郁自评量表 负性情绪
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Impact of COVID-19 pandemic on the neuropsychiatric status of Wilson’s disease
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作者 Giuseppe Lanza Massimiliano Godani +1 位作者 Raffaele Ferri Alberto Raggi 《World Journal of Gastroenterology》 SCIE CAS 2021年第39期6733-6736,共4页
We have read with interest the Letter to the Editor by Drs.Zhuang and Zhong,who presented the clinical data of 68 patients with Wilson’s disease(WD)who were admitted to the hospital before and during the coronavirus ... We have read with interest the Letter to the Editor by Drs.Zhuang and Zhong,who presented the clinical data of 68 patients with Wilson’s disease(WD)who were admitted to the hospital before and during the coronavirus disease 2019(COVID-19)pandemic,and appreciated their findings on hepatic and some extrahepatic manifestations.Nevertheless,given the strong impact of the pandemic on patients with neurological and psychiatric disorders,we would have expected a worsening of the psychiatric and/or neurological impairments in these patients.In contrast,according to the authors,these manifestations remained,somewhat unexpectedly,unchanged.This finding is in contrast with most of the current literature that highlights not only an increased incidence of mental health disorders in the general population but also an exacerbation of neurological and psychiatric symptoms in patients with chronic diseases,especially in those with pre-existing neuropsychiatric disorders,such as WD.Although the study was mainly focused on the hepatic features of WD patients taking anti-copper treatment,a generic and cumulative definition of neurological and psychiatric manifestations,as in this study,does not allow for further considerations.Future studies during and after the pandemic are necessary to clarify the real impact,either direct or indirect,of the COVID-19 pandemic on the neurological and psychiatric symptoms of WD patients. 展开更多
关键词 wilson’s disease Extra-hepatic manifestations Neuropsychiatric symptoms COVID-19 Therapy RESILIENCE
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2012欧洲肝脏研究协会Wilson’s病临床实践指南解读
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作者 南月敏 《肝脏》 2012年第12期872-879,共8页
欧洲肝脏研究协会(European Association for the Study of the Liver,EASL)通过回顾了1966-2011年Medline、Embase及Cochrane Library数据库中wilson病(Wilson’s disease,WD)相关文献,于2012年2月发布《wilson’s病临床实践指... 欧洲肝脏研究协会(European Association for the Study of the Liver,EASL)通过回顾了1966-2011年Medline、Embase及Cochrane Library数据库中wilson病(Wilson’s disease,WD)相关文献,于2012年2月发布《wilson’s病临床实践指南))(Clinical Practice Guideline,CPG)。由于缺乏随机对照临床研究,很难为指南中所涉及问题提供中、高质量的循证医学证据,临床评估主要依据近年大量病例报道。正常饮食摄取及吸收铜含量超出机体所需,胆汁分泌是维持体内铜代谢平衡的唯一途径。WD是一种常染色体隐性遗传性铜代谢障碍疾病,由于肝细胞排泌铜障碍,导致过量铜在体内沉积,尤以肝脏及脑部为著。铜代谢异常与位于13号染色体的ATP7B基因突变有关,该基因编码肝细胞高尔基体内的铜转运P型ATP酶。ATP7B的主要功能是将铜从细胞内伴侣蛋白转运至分泌途径,包括分泌至胆汁及与无铜铜蓝蛋白(Ceruloplasmin,CPN)结合形成功能性铜蓝蛋白。WD的进展程度取决于受累组织的铜沉积量。 展开更多
关键词 临床实践指南 wilson 常染色体隐性遗传性铜代谢障碍疾病 肝脏 协会 欧洲 wilson COCHRANE
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Assessment of LV Function in Children with Wilson’s Disease: Speckle Tracking Imaging Study
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作者 Mahmoud Kamel Ahmed Mohamed Yahia +1 位作者 Rehab Yaseen Morad Beshay 《World Journal of Cardiovascular Diseases》 2019年第3期202-211,共10页
Background and Objective: Wilson’s disease is a genetic disorder of copper metabolism that affects liver and other organs including heart. In early stages of myocardial affection, the left ventricle (LV) appears appa... Background and Objective: Wilson’s disease is a genetic disorder of copper metabolism that affects liver and other organs including heart. In early stages of myocardial affection, the left ventricle (LV) appears apparently normal when evaluated by traditional two-dimensional (2D) echocardiography. The aim of this study was to detect subclinical LV dysfunction in children with Wilson’s disease using 2D speckle tracking echocardiography. Patients and Methods: Twenty children with Wilson’s disease were compared with age- and sex-matched 20 healthy children. All subjects were evaluated by traditional 2D echocardiography and speckle tracking echocardiography. Results: There were no significant differences between patients and controls regarding conventional echo parameters except for lower E mitral flow and E' annular septal peak velocity in patient group. The regional peak longitudinal strain of apical 4 chamber view was -17.8% ± 4.2% in patients and -20.1% ± 2.3 % in control subjects (P = 0.043), and for apical 2 chambers view, it was -20.1%± 3.6% in patients and -22.6% ± 3.4% in control subjects (P = 0.034) and it was -18% ± 3.5% in patients and -20.5% ± 3.2% in control subjects (P = 0.025) in apical long axis view. The global peak longitudinal strain was also lower in patients than control group (18.3% ± 3.2%, and 20.85% ± 2.4%) respectively (P = 0.014). There were no significant differences between both groups regarding circumferential and radial strains (P > 0.05). Conclusions: Despite apparently normal LV systolic function, the children with Wilson’s disease demonstrated significantly lower peak longitudinal strain as an indicator for early affection of LV systolic function. 展开更多
关键词 wilson’s DISEASE SPECKLE Tracking ECHOCARDIOGRAPHY
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不同临床分型的Wilson’s病临床特点分析 被引量:4
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作者 陈宇宁 王锦辉 +3 位作者 薛立峰 林述洲 林耿鹏 陈旻湖 《实用肝脏病杂志》 CAS 2014年第4期392-395,共4页
目的探讨不同亚型Wilson’s病(WD)的临床特点及肝型患者预后转归。方法收集256例WD患者的临床资料并随访,根据临床表现将患者分为不同的临床亚型,进一步分析比较肝型、脑型和混合型WD患者的临床特点差异和随访追踪肝型WD患者的预后。结... 目的探讨不同亚型Wilson’s病(WD)的临床特点及肝型患者预后转归。方法收集256例WD患者的临床资料并随访,根据临床表现将患者分为不同的临床亚型,进一步分析比较肝型、脑型和混合型WD患者的临床特点差异和随访追踪肝型WD患者的预后。结果在256例WD患者中,以混合型(152例,59.4%)和肝型(74例,28.9%)患者常见,而脑型(27例,10.5%)和其他亚型(3例,1.2%)较少;肝型WD患者失代偿期肝硬化比例(78.4%)高于混合型患者(22.0%,P<0.001);肝型WD患者肝脏血清生化学指标(转氨酶、ALP、GGT、胆红素以及球蛋白水平)高于混合型WD患者(P<0.05);肝型WD患者血清铜[(1.04±1.50)mg/L]水平明显低于脑型WD患者[(2.96±2.88)mg/L]和混合型WD患者[(2.34±2.68)mg/L,P<0.001],但两者铜蓝蛋白和尿铜水平无统计学差异(P>0.05);肝型WD患者K-F环检出率(64.9%)低于脑型WD患者(92.6%)和混合型WD患者(90.1%,P<0.05);经Logistic回归分析显示角膜K-F的有无与年龄(OR=0.922,P=0.014)、血清铜蓝蛋白(OR=35902.1,P=0.015)相关;平均随访31例肝型WD患者(8.3±5.8)年,3例(9.7%)进展为混合型WD患者。结论 WD以混合型和肝型最多见,肝型患者肝脏损害比混合型更为严重,提示肝脏是WD最主要的靶器官。 展开更多
关键词 肝豆状核变性 铜代谢 临床分型 临床特点
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The role of mTOR signaling pathway in regulating autophagy in liver injury of TX mice with Wilson’s disease 被引量:1
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作者 PENG WU MANLI GAO +5 位作者 JIANJIAN DONG CHENCHEN XU BO LI XUN WANG YONGZHU HAN NAN CHENG 《BIOCELL》 SCIE 2021年第1期109-117,共9页
Wilson disease(WD),known as hepatolenticular degeneration(HLD),is a treatable autosomal recessive disorder of copper metabolism.Because copper deposits in the liver first,the liver is not only the original defective o... Wilson disease(WD),known as hepatolenticular degeneration(HLD),is a treatable autosomal recessive disorder of copper metabolism.Because copper deposits in the liver first,the liver is not only the original defective organ but also the most affected organ.The liver injury is also one of the main causes of death throughout the course of the disease.Therefore,the treatment of liver injury is the main task of WD treatment,which is of great significance to improve the prognosis of patients.Autophagy is a process that promotes cell survival through degradation,recycling,and absorption in order to maintain the normal physiological function of cells,while excessive autophagy can aggravate cell death.In view of the abnormal damage of liver cells in patients with WD,which may be related to the change of autophagy level,in this study,we established an animal model of WD through toxic milk(TX)mice,observed the change of autophagy level in the liver,and observed the change of liver damage in mice after treatment with autophagy inhibitors.It was found that the mTOR signaling pathway was activated and autophagy was inhibited in Wilson mouse liver.After treatment with rapamycin,the autophagy level of mice liver was upregulated,and the copper content of mice liver was reduced,and the damage was alleviated.TX mouse hepatocytes were isolated,after using siRNA to interfere with mTOR expression,the copper accumulation was significantly reduced,which was the same with RAPA treatment.The results showed that in TX mice,the damage caused by copper accumulation in the liver may be related to the decrease of autophagy level caused by the activation of the mTOR signaling pathway.Our findings suggested that RAPA or the use of siRNA targeting mTOR may have potential applications in the treatment of Wilson’s disease. 展开更多
关键词 wilson disease(WD) TX mice AUTOPHAGY mTOR signaling pathway
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肝豆灵片对痰瘀互结型Wilson病肝硬化预后的影响
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作者 黄晓峰 谢道俊 张娟 《中西医结合肝病杂志》 CAS 2024年第4期296-300,共5页
目的:探讨肝豆灵片对痰瘀互结型Wilson病肝硬化预后的影响。方法:选择2020年4月至2021年4月住院的106例痰瘀互结型Wilson病肝硬化患者为研究对象,按照是否服用肝豆灵片分为观察组和对照组,对两组患者定期随访2年,随访期结束后计算两组... 目的:探讨肝豆灵片对痰瘀互结型Wilson病肝硬化预后的影响。方法:选择2020年4月至2021年4月住院的106例痰瘀互结型Wilson病肝硬化患者为研究对象,按照是否服用肝豆灵片分为观察组和对照组,对两组患者定期随访2年,随访期结束后计算两组患者生存率,选择Kaplan-Meier法绘制两组患者生存曲线,运用log-rank检验进行比较。根据患者生存结局,采用Cox回归分析Wilson病肝硬化预后的危险因素。结果:生存分析显示观察组患者2年生存率高于对照组(P<0.05),进一步分析显示在Child-Pugh分级为A级和B级患者中,两组患者生存率差异有统计学意义(P<0.05),C级中两组患者生存率差异无统计学意义(P>0.05)。Cox回归分析显示病程、脾切除、Child-Pugh评分和肝豆灵片是影响Wilson病肝硬化预后的独立危险因素(P<0.05)。结论:痰瘀互结型Wilson病肝硬化患者出现病程长、脾脏切除、Child-Pugh评分高、未服用肝豆灵片者其预后较差。肝豆灵片能提高痰瘀互结型Wilson病肝硬化患者生存率,但这种保护作用局限在Child-Pugh A级和B级患者。 展开更多
关键词 肝豆状核变性 肝硬化 预后 肝豆灵片
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